Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X.
Park
Y S
YS
Department of Microbiology, Inje University, Kimhae, Korea.
Seoung
C S
CS
Lee
S W
SW
Oh
K H
KH
Lee
D H
DH
Yim
J
J
D019943:Amino Acid Substitution; D018388:Codon, Terminator / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007723:Korea; D008297:Male; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology / Q000235:genetics*; D017354:Point Mutation
D018388:Codon, Terminator; D004247:DNA; D010651:Phenylalanine Hydroxylase